Results of screening for phenylalanine and other amino acid disturbances among pregnant women.
Blood specimens were collected from 15000 pregnant women during the first 3 months of their pregnancy and screened for amino acid disturbances by means of paper chromatography. A high incidence of disturbances in the phenylalanine metabolism was discovered: three cases of mild hyperphenylalaninaemia without phenylpyruvicaciduria (incidence 1:5000); two cases of mild hyperphenylalaninaemia with phenylpyruvicaciduria (incidence 1:7550); four cases of mild phenylketonuria (incidence 1:3750). Disturbances in the metabolism of other amino acids were found to be rare. Metabolic and genealogical findings in some detected families are briefly described.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000596:Amino Acids / Q000097:blood*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010649:Phenylalanine / Q000097:blood*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D014443:Tyrosine / Q000097:blood
D000596:Amino Acids; D014443:Tyrosine; D010649:Phenylalanine